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| X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions |
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| Author(s): Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I |
| Source: NATURE GENETICS Volume: 19 Issue: 1 Pages: 32-38 Published: MAY 1998 |
| Times Cited: 297 References: 41 |
| Abstract: X-linked recessive dyskeratosis congenita (DKC) is a rare bone-marrow failure disorder linked to Xq28. Hybridization screening with 28 candidate cDNAs resulted in the detection of a 3' deletion in one DKC patient with a cDNA probe (derived from XAP101). Five different missense mutations in five unrelated patients were subsequently identified in XAP101, indicating that it is the gene responsible for X-linked DKC (DKC1). DKC1 is highly conserved across species barriers and is the orthologue of rat NAP57 and Saccharomyces cerevisiae CBF5. The peptide dyskerin contains two TruB pseudouridine (psi) synthase motifs, multiple phosphorylation sites, and a carboxy-terminal lysine-rich repeat domain. By analogy to the function of the known dyskerin orthologues, involvement in the cell cycle and nucleolar function is predicted for the protein. |
| Document Type: Article |
| Language: English |
| Reprint Address: Poustka, A (reprint author), Deutsch Krebsforschungszentrum, Dept Mol Genome Anal, Neuenheimer Feld 280, D-69120 Heidelberg, Germany |
Addresses:
1. Deutsch Krebsforschungszentrum, Dept Mol Genome Anal, D-69120 Heidelberg, Germany
2. Univ London Imperial Coll Sci Technol & Med, Sch Med, Dept Haematol, London W12 0NN, England
3. Hammersmith Hosp, London W12 0NN, England |
| Publisher: NATURE AMERICA INC, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: ZK651 |
| ISSN: 1061-4036 |
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